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Page 1
SMARCB1-deficient and SMARCA4-deficient Malignant Brain Tumors With Complex Copy Number Alterations and TP53 Mutations May Represent the First Clinical Manifestation of Li-Fraumeni Syndrome.
Hasselblatt M, Thomas C, Federico A, Nemes K, Johann PD, Bison B, Bens S, Dahlum S, Kordes U, Redlich A, Lessel L, Pajtler KW, Mawrin C, Schüller U, Nolte K, Kramm CM, Hinz F, Sahm F, Giannini C, Penkert J, Kratz CP, Pfister SM, Siebert R, Paulus W, Kool M, Frühwald MC. Hasselblatt M, et al. Among authors: penkert j. Am J Surg Pathol. 2022 Sep 1;46(9):1277-1283. doi: 10.1097/PAS.0000000000001905. Epub 2022 Apr 22. Am J Surg Pathol. 2022. PMID: 35446794
Genotype-phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry.
Penkert J, Strüwe FJ, Dutzmann CM, Doergeloh BB, Montellier E, Freycon C, Keymling M, Schlemmer HP, Sänger B, Hoffmann B, Gerasimov T, Blattmann C, Fetscher S, Frühwald M, Hettmer S, Kordes U, Ridola V, Kroiss Benninger S, Mastronuzzi A, Schott S, Nees J, Prokop A, Redlich A, Seidel MG, Zimmermann S, Pajtler KW, Pfister SM, Hainaut P, Kratz CP. Penkert J, et al. J Hematol Oncol. 2022 Aug 16;15(1):107. doi: 10.1186/s13045-022-01332-1. J Hematol Oncol. 2022. PMID: 35974385 Free PMC article.
Research on Rare Diseases in Germany - The cancer predisposition syndrome registry.
Dutzmann CM, Palmaers NE, Müntnich LJ, Strüwe FJ, Penkert J, Sänger B, Hoffmann B, Karow A, Reimer C, Gerasimov T, Niewisch MR, Kratz CP. Dutzmann CM, et al. Among authors: penkert j. J Health Monit. 2023 Dec 13;8(4):17-23. doi: 10.25646/11828. eCollection 2023 Dec. J Health Monit. 2023. PMID: 38384741 Free PMC article.
Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome.
Montellier E, Lemonnier N, Penkert J, Freycon C, Blanchet S, Amadou A, Chuffart F, Fischer NW, Achatz MI, Levine AJ, Goudie C, Malkin D, Bougeard G, Kratz CP, Hainaut P. Montellier E, et al. Among authors: penkert j. iScience. 2024 Nov 1;27(12):111296. doi: 10.1016/j.isci.2024.111296. eCollection 2024 Dec 20. iScience. 2024. PMID: 39634561 Free PMC article.
The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants.
Schubert S, van Luttikhuizen JL, Auber B, Schmidt G, Hofmann W, Penkert J, Davenport CF, Hille-Betz U, Wendeburg L, Bublitz J, Tauscher M, Hackmann K, Schröck E, Scholz C, Wallaschek H, Schlegelberger B, Illig T, Steinemann D. Schubert S, et al. Among authors: penkert j. Int J Cancer. 2019 Jun 1;144(11):2683-2694. doi: 10.1002/ijc.31992. Epub 2019 Jan 11. Int J Cancer. 2019. PMID: 30426508
Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.
Yang X, Leslie G, Doroszuk A, Schneider S, Allen J, Decker B, Dunning AM, Redman J, Scarth J, Plaskocinska I, Luccarini C, Shah M, Pooley K, Dorling L, Lee A, Adank MA, Adlard J, Aittomäki K, Andrulis IL, Ang P, Barwell J, Bernstein JL, Bobolis K, Borg Å, Blomqvist C, Claes KBM, Concannon P, Cuggia A, Culver JO, Damiola F, de Pauw A, Diez O, Dolinsky JS, Domchek SM, Engel C, Evans DG, Fostira F, Garber J, Golmard L, Goode EL, Gruber SB, Hahnen E, Hake C, Heikkinen T, Hurley JE, Janavicius R, Kleibl Z, Kleiblova P, Konstantopoulou I, Kvist A, Laduca H, Lee ASG, Lesueur F, Maher ER, Mannermaa A, Manoukian S, McFarland R, McKinnon W, Meindl A, Metcalfe K, Mohd Taib NA, Moilanen J, Nathanson KL, Neuhausen S, Ng PS, Nguyen-Dumont T, Nielsen SM, Obermair F, Offit K, Olopade OI, Ottini L, Penkert J, Pylkäs K, Radice P, Ramus SJ, Rudaitis V, Side L, Silva-Smith R, Silvestri V, Skytte AB, Slavin T, Soukupova J, Tondini C, Trainer AH, Unzeitig G, Usha L, van Overeem Hansen T, Whitworth J, Wood M, Yip CH, Yoon SY, Yussuf A, Zogopoulos G, Goldgar D, Hopper JL, Chenevix-Trench G, Pharoah P, George SHL, Balmaña J, Houdayer C, James P, El-Haffaf Z, Ehrencrona H, Janatova M, Peterlongo P, … See abstract for full author list ➔ Yang X, et al. Among authors: penkert j. J Clin Oncol. 2020 Mar 1;38(7):674-685. doi: 10.1200/JCO.19.01907. Epub 2019 Dec 16. J Clin Oncol. 2020. PMID: 31841383 Free PMC article.
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